Baiget M, Casals T, Nunes V, Estivill X
Med Clin (Barc). 1989 Mar 18;92(10):361-3.
A molecular study of 36 Spanish families with cystic fibrosis (CF) patients is reported. The analysis of seven DNA polymorphisms adjacent to the CF gene permitted the diagnosis of 95% of the probable carriers and the antenatal diagnosis in the seven cases in which it was requested. The application of recombinant DNA techniques to the study of CF by means of the analysis of DNA markers linked to the CF gene is useful, not only to identify the latter, but also as a reference to investigate its molecular pathology and for diagnostic purposes in high risk families (families with involved members).
报道了一项对36个有囊性纤维化（CF）患者的西班牙家庭的分子研究。对与CF基因相邻的7个DNA多态性进行分析，可诊断出95%的可能携带者，并对7例要求进行产前诊断的病例作出诊断。通过分析与CF基因连锁的DNA标记，将重组DNA技术应用于CF研究是有用的，这不仅有助于识别CF基因，而且作为研究其分子病理学的参考，并用于高危家庭（有患病成员的家庭）的诊断。
